Hereditary spastic paraplegia
Gene: GJC2
Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019Created: 3 May 2019, 8:35 a.m.
Lots of accounts linking this gene with "Pelizaeus-Merzbacher-like" disorder. Needs more expert curation in case PLP is a ddx for HSP, but given that PLP1 isnt in HSP panel this looks unlikelyCreated: 27 Nov 2018, 10:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This gene is on the Hereditary Spastic Paraplagia (HSP) NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual: "GJC2 encodes a gap junction protein which plays a key role in central myelination and is involved in peripheral myelination in humans. Mutations in this gene have been associated with autosomal recessive Pelizaeus-Merzbacher-like disease-1 (SPG44)." It is a confirmed DD gene for spastic paraplegia 44, with monoallelic inheritance (OMIM states recessive inheritance).Created: 14 Jun 2016, 9:48 a.m.
Only a single family described with this phenotype, many more cases with the above phenotypesCreated: 7 Feb 2016, 8 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pelizaeus-Merzbacher disease (biallelic); lymphoedema (monoallelic)
Publications
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene GJC2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene GJC2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene GJC2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene GJC2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene GJC2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene GJC2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene GJC2 was changed to BIALLELIC, autosomal or pseudoautosomal
GJC2 was added to Hereditary spastic paraplegiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list
Model of inheritance for gene GJC2 was changed to BIALLELIC, autosomal or pseudoautosomal
GJC2 was added to Hereditary spastic paraplegiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list
GJC2 was added to Hereditary spastic paraplegiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list